Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

8 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Cerebellar heterotopia in an 11-year-old child with KDM6B-related neurodevelopmental disorder: A case report and review of the literature.
Politano D, D'Abrusco F, Pasca L, Ferraro F, Gana S, Garau J, Zanaboni MP, Rognone E, Pichiecchio A, Borgatti R, Valente EM, De Giorgis V, Romaniello R. Politano D, et al. Among authors: d abrusco f. Am J Med Genet A. 2024 Jun;194(6):e63555. doi: 10.1002/ajmg.a.63555. Epub 2024 Feb 7. Am J Med Genet A. 2024. PMID: 38326731 Review.
Visual function in children with Joubert syndrome.
Morelli F, Toni F, Saligari E, D'Abrusco F, Serpieri V, Ballante E, Ruberto G, Borgatti R, Valente EM, Signorini S; Developmental Neuro-ophthalmology Study Group. Morelli F, et al. Among authors: d abrusco f. Dev Med Child Neurol. 2024 Mar;66(3):379-388. doi: 10.1111/dmcn.15732. Epub 2023 Aug 18. Dev Med Child Neurol. 2024. PMID: 37593819 Review.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Serpieri V, Mortarini G, Loucks H, Biagini T, Micalizzi A, Palmieri I, Dempsey JC, D'Abrusco F, Mazzotta C, Battini R, Bertini ES, Boltshauser E, Borgatti R, Brockmann K, D'Arrigo S, Nardocci N, Fischetto R, Agolini E, Novelli A, Romano A, Romaniello R, Stanzial F, Signorini S, Strisciuglio P, Gana S, Mazza T, Doherty D, Valente EM. Serpieri V, et al. Among authors: d abrusco f. J Med Genet. 2023 Sep;60(9):885-893. doi: 10.1136/jmg-2022-108725. Epub 2023 Feb 14. J Med Genet. 2023. PMID: 36788019 Free PMC article.
Expanding the natural history of CASK-related disorders to the prenatal period.
Gafner M, Boltshauser E, D'Abrusco F, Battini R, Romaniello R, D'Arrigo S, Zanni G, Leibovitz Z, Yosovich K, Lerman-Sagie T; Cask Study Group*. Gafner M, et al. Among authors: d abrusco f. Dev Med Child Neurol. 2023 Apr;65(4):544-550. doi: 10.1111/dmcn.15419. Epub 2022 Sep 29. Dev Med Child Neurol. 2023. PMID: 36175354 Free article.
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.
Romaniello R, Pasca L, Panzeri E, D'Abrusco F, Travaglini L, Serpieri V, Signorini S, Aiello C, Bertini E, Bassi MT, Valente EM, Zanni G, Borgatti R, Arrigoni F. Romaniello R, et al. Among authors: d abrusco f. Int J Mol Sci. 2022 Jun 16;23(12):6723. doi: 10.3390/ijms23126723. Int J Mol Sci. 2022. PMID: 35743164 Free PMC article.
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.
D'Abrusco F, Arrigoni F, Serpieri V, Romaniello R, Caputi C, Manti F, Jocic-Jakubi B, Lucarelli E, Panzeri E, Bonaglia MC, Chiapparini L, Pichiecchio A, Pinelli L, Righini A, Leuzzi V, Borgatti R, Valente EM. D'Abrusco F, et al. Cerebellum. 2022 Dec;21(6):1144-1150. doi: 10.1007/s12311-021-01350-8. Epub 2021 Nov 30. Cerebellum. 2022. PMID: 34846692
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group. Serpieri V, et al. Among authors: d abrusco f. J Med Genet. 2022 Sep;59(9):888-894. doi: 10.1136/jmedgenet-2021-108114. Epub 2021 Oct 21. J Med Genet. 2022. PMID: 34675124 Free PMC article.